P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP): DISTRIBUTION OF PATIENTS AFFECTED BY RADS IN EUROPE
Authors: José Martín Solórzano González, Sara Isabel Reidel, Ines Labidi, Claire Diot Lefebvre, Stella Tamana, Victoria Gutierrez Valle, Eduard van Beers, Raffaella Colombatti, Paola Bianchi, Angelo Loris Brunetta, Dore Peereboom, Frédéric Galactéros, Giovanna Russo, Antonis Kattamis, Laurence Dedeken, Joachim Kunz, Elena Cela, Celeste Bento, Ulf Tedgard, Andreas Glenthøj, Soteroula Christou, Marina Kleanthous, Petros Kountouris, Beatrice Gulbis, Maria Del Mar Mañú Pereira
Journal: HemaSphere (2023)

Topic: 26. Sickle cell disease Background: Due to complications of the disease but also the treatment, rare anaemia disorders (RADs), over time, become multi-organ disorders, requiring the involvement of several medical specialties. This creates an important burden on the health systems and requires surveillance to ensure a health policy that provides adequate allocation of resources. Reliable epidemiological data is also important to identify groups of patients suitable for carrying out clinical studies. Aims: This study aimed to assess the distribution of RADs in Europe to improve diagnosis and follow-up protocols, as well as facilitate research and access to available therapeutic options for patients with RADs. Methods: The study was conducted through the Rare Anaemia Disorders European Epidemiological Platform (RADeep), endorsed by ERN-EuroBloodNet. Two epidemiological mappings were performed in 2020 and 2023, including 235 centers from 19 European countries. Data on RADs patients in regular follow-ups were included, stratified by sex and age range. Diseases included were sickle cell disease (SCD), thalassaemia (THAL), pyruvate kinase deficiency (PKD), membrane disorders (MbD), congenital dyserythropoietic anaemia (CDA), and iron-related anaemia disorders (IRAD). Results: A total of 43,838 RAD patients were reported and are presented in figure 1. The most frequently reported RAD was SCD with 26,892 (61%) patients, followed by THAL, MdB, PKD, IRAD, and CDA with 11,418 (26%), 3 983 (9.1%), 794 (1.8%), 523 (1.2%) and 228 (0.5%) patients, respectively. For SCD patients 53% were adults with significant variations at country level ranging from more than 75% adults in Cyprus, Greece or Hungary to less than 25% in Germany, Portugal, and Spain. For those with THAL, 74% were adults with national variations and a predominance of pediatric patients were in Sweden, Poland, Norway, and Germany. For the other RADs, adult patients represented 39% for MdB, 55% for PKD, 79% for IRAD, and 76% for CDA. The highest number of patients with SCD was in France, followed by Italy, Greece, and Germany with 59%, 7%, 6%, and 6%, respectively. Italy, Greece, and France recorded the highest number of patients with THAL (33%, 29%, and 9%) and IRAD (50%, 11%, 15%). France, Germany, and Italy recorded the highest number of patients with MdB (13%, 16%, 20%), PKD (33%, 15%, 14%), and CDA (14%, 8 %, 34%). In general, men and women were evenly distributed. Summary/Conclusion This study shows the heterogeneous geographic distribution of patients with various RADs in Europe. This heterogeneity relies on the different prevalence of ethnic origin populations at risk for SCD or THAL, but also on the presence of preventive programs, patients’ registries, or centres of expertise for diagnosis, as for PKD or CDA. Understanding the high disease burden associated with these disorders, our data could help standardize RADs local protocols and follow-up guidelines at the national level across Europe to ensure better patient identification and tracking. This ultimately may improve the quality of healthcare provided to RAD patients. Acknowledgments: RADeep has conducted this study with the support of EuroBloodNet Association through grants from Novartis Pharma AG, Agios Pharmaceuticals Inc and Bristol-Myers Squibb Figure 1Keywords: Diagnosis, Sickle cell anemia, Epidemiology, Anemia